Congenital Muscular Dystrophy Type 1A Overview

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Learn About Congenital Muscular Dystrophy Type 1A

What is the definition of Congenital Muscular Dystrophy Type 1A?
Congenital muscular dystrophy type 1A (MDC1A) belongs to a group of neuromuscular disorders that beings at birth or infancy and is characterized mainly by hypotonia, muscle weakness and muscle wasting. Other signs and symptoms include rigidity of the spine; scoliosis; and delayed, limited motor development, with most individuals needing assistive devices for mobility. Respiratory problems, feeding disorders and seizures may also occur. With time, affected individuals may develop an elongated face and ophthalmoplegia disorders (paralysis or weakness in muscles of the eye). Intellectual development is typically normal. It is caused by genetic changes in the LAMA2 gene and is inherited in an autosomal recessive manner.
What are the alternative names for Congenital Muscular Dystrophy Type 1A?
  • Congenital muscular dystrophy type 1A
  • Muscular dystrophy white matter spongiosis
  • LAMA2-related muscular dystrophy
  • Laminin alpha-2 deficiency
  • MDC1A
  • Merosin-deficient congenital muscular dystrophy
  • Merosin-negative congenital muscular dystrophy
  • Muscular dystrophy, congenital, merosin-deficient
  • Atrophie blanche
Who are the top Congenital Muscular Dystrophy Type 1A Local Doctors?
Advanced in Congenital Muscular Dystrophy Type 1A
Dr. Katherine D. Mathews
Neurology | Pediatrics | Pediatric Neurology
Advanced in Congenital Muscular Dystrophy Type 1A
Dr. Katherine D. Mathews
Neurology | Pediatrics | Pediatric Neurology

State University Of Iowa

200 Hawkins Dr, 
Iowa City, IA 
319-356-1616
Languages Spoken:
English
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Accepting New Patients

Katherine Mathews is a Neurologist and a Pediatrics provider in Iowa City, Iowa. Dr. Mathews is rated as an Advanced provider by MediFind in the treatment of Congenital Muscular Dystrophy Type 1A. Her top areas of expertise are Limb-Girdle Muscular Dystrophy Type 2I, Limb-Girdle Muscular Dystrophy, Dystrophinopathy, and Friedreich Ataxia. Dr. Mathews is currently accepting new patients.

David P. Randall
Experienced in Congenital Muscular Dystrophy Type 1A
Dr. David P. Randall
Neurology
Experienced in Congenital Muscular Dystrophy Type 1A
Dr. David P. Randall
Neurology

Advocate Medical Group Neurology

1875 Dempster St, Ste 625/660, 
Park Ridge, IL 
847-723-4088
Languages Spoken:
English
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David Randall is a Neurologist in Park Ridge, Illinois. Dr. Randall is rated as an Experienced provider by MediFind in the treatment of Congenital Muscular Dystrophy Type 1A. His top areas of expertise are Lambert-Eaton Syndrome, Peripheral Neuropathy, Chronic Inflammatory Demyelinating Polyneuropathy, and Myasthenia Gravis.

 
 
 
 
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Ajay A. Kumar
Distinguished in Congenital Muscular Dystrophy Type 1A
Dr. Ajay A. Kumar
Internal Medicine
Distinguished in Congenital Muscular Dystrophy Type 1A
Dr. Ajay A. Kumar
Internal Medicine

Reid Emergency Group, PC

101 Lake Oconee Pkwy, 
Eatonton, GA 
706-485-2711
Languages Spoken:
English, Hindi, Punjabi
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Accepting New Patients

Ajay Kumar is a primary care provider, practicing in Internal Medicine in Eatonton, Georgia. Dr. Kumar is rated as a Distinguished provider by MediFind in the treatment of Congenital Muscular Dystrophy Type 1A. His top areas of expertise are Congenital Muscular Dystrophy Type 1A, Asthma in Children, Asthma, Grass Allergy, and Lung Transplant. Dr. Kumar is currently accepting new patients.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center